Linked Data
ClinVar Variation Id:
1570575
dbSNP Id:
rs777190873
ExAC:
1:55527178 A / C
gnomAD v2:
1-55527178-A-C
gnomAD v3:
1-55061505-A-C
gnomAD v4:
1-55061505-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55061505A>C , CM000663.2:g.55061505A>C | GRCh38 |
| NC_000001.10:g.55527178A>C , CM000663.1:g.55527178A>C | GRCh37 |
| NC_000001.9:g.55299766A>C | NCBI36 |
| NG_009061.1:g.26959A>C , LRG_275:g.26959A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*152A>C | ENSP00000501161.2:n.*152A>C | |
| ENST00000710286.1:c.2169A>C | ENSP00000518176.1:p.Pro723= | |
| ENST00000673903.1:c.1437A>C | ENSP00000501257.1:p.Pro479= | |
| ENST00000673913.1:c.662A>C | ENSP00000501161.1:n.662A>C | |
| ENST00000302118.5:c.1812A>C MANE Select | ENSP00000303208.5:p.Pro604= | |
| ENST00000490692.1:n.2358A>C | ||
| NM_174936.3:c.1812A>C , LRG_275t1:c.1812A>C | NP_777596.2:p.Pro604= | |
| NR_110451.1:n.1419A>C | ||
| XM_011541193.1:c.933A>C | XP_011539495.1:p.Pro311= | |
| NM_174936.4:c.1812A>C MANE Select | NP_777596.2:p.Pro604= | |
| NR_110451.2:n.1419A>C |